Mutations in Gamma-Secretase Subunit-Encoding PSENEN Underlie Dowling-Degos Disease Associated with Acne Inversa

    Damian J. Ralser, F. Buket Basmanav, Aylar Tafazzoli, Jade Wititsuwannakul, Sarah Delker, Sumita Danda, Holger Thiele, Sabrina Wolf, Michélle Busch, Susanne Pulimood, Janine Altmüller, Peter Nürnberg, Didier Lacombe, Uwe Hillen, Joerg Wenzel, Jorge Frank, Benjamin Odermatt, Regina C. Betz
    Studysummary In this study, researchers identified PSENEN mutations that can lead to a form of Dowling-Degos disease, characterized by follicular hyperkeratosis and an increased susceptibility to acne inversa, especially in the presence of certain trigger factors.
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